Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations

Saltik-Temizel İ. N., Coskun T., Yuce A., Kocak N.

TURKISH JOURNAL OF PEDIATRICS, cilt.47, sa.2, ss.167-169, 2005 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 47 Sayı: 2
  • Basım Tarihi: 2005
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.167-169
  • Anahtar Kelimeler: Fanconi-Bickel syndrome, glycogenosis, mutation analysis, GLUCOSE-TRANSPORTER, GLUT2 GENE, SLC2A2 GLUT2
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Three Turkish patients with Fanconi-Bickel syndrome are presented. Prominent clinical findings of patients included hepatomegaly, growth retardation, hypoglycemia, characteristic tubular nephropathy, and rickets. Each patient had a different homozygous mutation of: glucose transporter 2 (GLUT2) gene.